WHAT IS FABRY
Gradually, this leads to a range of physical symptoms and complications, which vary from one person to another.
Symptoms in Fabry
Day to day symptoms in Fabry are known to vary from one person to another.
As Fabry disease is an X-linked disorder it can be passed to children by either parent
Testing and Diagnosis
An early diagnosis of Fabry disease is useful for many reasons, including starting symptom management, reducing the risk of further problems happening as well as early identification of other family members who may be affected. Initially, a combination of the signs and symptoms may lead your doctor to think you may have Fabry disease. Your doctor may then refer you to a specialist centre for a diagnosis of Fabry disease to be confirmed and for any treatment to be initiated. Anyone who is thought to have Fabry disease can have the diagnosis confirmed through laboratory testing. This test, called an enzyme assay, measures the amount of alpha-GAL enzyme activity in the blood. In males this can be done by taking a blood sample which is then tested to check the level of the a-Gal A enzyme. If the level of the enzyme is very low a diagnosis of Fabry disease can be made. This test can also be used to confirm the diagnosis of Fabry disease in females, although a laboratory genetic test in which DNA is analysed is a more effective test for confirming the diagnosis in women especially where there is a family history of Fabry disease.
Prenatal diagnosis is possible by measuring the a-Gal A activity in tissue or fluid taken from around the foetus. This test may be offered to expectant mothers who have Fabry disease. Specialist support and advice are available for such testing. An examination of your family history may indicate the presence of Fabry disease, particularly if a male relative suffered from kidney failure, heart disease or stroke early in life. To help identify whether there is the possibility of you or any of your relatives having Fabry disease, you can complete a medical family tree.
Misdiagnosis is common in Fabry disease due to its rarity. Fabry disease has been mistaken for;
Irritable bowel syndrome
There is no cure for Fabry disease but current treatments may prevent organ damage and greatly improve the quality of life of patients.
Living with difficult physical symptoms is only one of the challenges people with Fabry disease may face. Fabry disease is a rare disease and you may experience feelings of fear, depression, isolation or guilt about passing the disease along. Family members may be affected as well.
Remember that you are not alone.
We give support to newly diagnosed Fabry patients as well as those with a long history of living with the disease. You may find it helpful to talk with someone else from the Fabry International Network – someone in a similar situation with similar concerns and fears.
Fabry disease is an X-linked genetic disease that is caused by mutations in the GLA gene. The GLA gene generates instructions for an enzyme called alpha-galactosidase A (Alpha-GAL), which is responsible for the breakdown of a type of fat called globotriaosylceramide (Gb3 or GL-3).
Accumulation of Gb3 in the body can cause a wide range of problems, including stroke, kidney disease, and heart attack. (Refer to our “What is Fabry disease?” overview page for more details.)
Fabry disease is estimated to affect one in 40,000 to 60,000 males.
Two main types of Fabry disease have been described: type 1 (classic Fabry disease) and type 2 (atypical or late-onset Fabry disease), depending on when the symptoms appear.
Fabry disease has previously been classified as an X-linked, recessive genetic disorder; however, females who carry the Fabry gene may show signs and symptoms of Fabry disease.
Fabry disease is therefore now described as ‘following X-linked inheritance’ and the use of the term ‘carrier’ for females with the Fabry gene may no longer be appropriate.
Because Fabry is an X-linked disease, it mainly affects men because they have only one X-chromosome. In females, the second, healthy X-chromosome can compensate for the mutated gene. That means women can carry the disease and pass it to their children. Due to the way Fabry disease is inherited, symptoms vary more in women than they do in men. Most men with Fabry disease will experience the full range of symptoms. Symptoms in women can be highly variable, even within the same family. Women with the disease may experience symptoms as severely as men, they may have milder symptoms, or they may have severe symptoms in some organs but not others.
Early diagnosis of Fabry disease is essential so that specific Fabry disease treatment and symptomatic management can be initiated to try to limit potentially irreversible organ damage.
Prompt Fabry disease diagnosis may also benefit relatives of the patient in whom the disease is yet to be diagnosed.
The symptoms of Fabry disease can be wide-ranging including chronic pain, dark red spots on the skin, cloudy eyes, hearing loss, kidney damage, risk of heart attacks, decreased ability to sweat, and more. For more information, refer to our “symptoms of Fabry disease” page.
My patient has just received his diagnosis and his family are looking for further information on Fabry disease are wondering best to communicate the diagnosis to relative. How do I inform him or her the best?
Genetic counselling is essential to help patients and family members understand the diagnosis and potential Fabry disease treatment options. Genetic counselling is also helpful to explain the risks, benefits and limitations associated with different genetic tests, and can be used to explain the results of these tests. Finally, genetic counselling is a valuable opportunity to provide information about patient support groups.
No. Fabry disease is a genetic disease and cannot be acquired from physical contact with an affected individual.
Fabry disease is known to reduce life expectancy by about 20 years when compared to healthy individuals. The average life expectancy for men with Fabry disease is about 58 years in the U.S. compared to 75 years in the case of healthy men.
There is no known cure for Fabry disease, but many of its symptoms can be managed effectively. Available treatments include enzyme replacement. Enzyme replacement therapy is available for all patients. Chaperone therapy is available for patients with a so-called “amenable” α-galactosidase A gene mutation (the specific mutation carried by your patient must be confirmed via genetic testing to ensure that they are eligible for treatment). Symptoms can be present in organs such as the kidney, heart, and ears. Patients may also have psychosocial issues resulting from diagnosis and disease. Thus, a multidisciplinary approach to Fabry disease treatment is required, and patients will require ongoing symptomatic treatment even after enzyme replacement therapy has been initiated.
Lifestyle and dietary changes also may be needed to further improve quality of life.
FIN regularly publishes articles that cover a range of relevant news, information, and treatment options for patients and caregivers of those with Fabry disease, including ongoing research and upcoming treatments in development.